The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. This suggests that the encoded protein may be a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq
Function:
Critical for proper photorecetor cell maintenance and function. May play a role in calcium homeostasis and participate in calcium regulation in the mechanotransduction process (By similarity).
Subcellular Location:
Photoreceptor inner segment (By similarity). Note=Expressed in inner and outer segments of photoreceptor cells, as well as in the pigmented epithelium. Also observed in the inner and outer plexiform layers and in the ganglion cell layer (By similarity).
Tissue Specificity:
Ubiquitous.
DISEASE:
Usher syndrome 1J (USH1J) [MIM:614869]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 3 EF-hand domains.
SWISS:
O75838
Gene ID:
10518
Database links:
Entrez Gene: 10518 Human
Entrez Gene: 56506 Mouse
Entrez Gene: 300719 Rat
Omim: 605564 Human
SwissProt: O75838 Human
SwissProt: Q05BT6 Human
SwissProt: Q9Z309 Mouse
SwissProt: Q568Z7 Rat
Unigene: 129867 Human
Unigene: 42192 Mouse
Unigene: 4664 Rat
|
|
